Table 1 Clinical data and neurological findings for 26 heterozygous (NGFB mutation) patients

Case No	Age (years)	Sex	Age at onset	Onset symptom	Charcot joint	CN	MNSI history	MNSI status	Cranial nerve	Muscle	Motor sign	Reflexes leg	Sensation					Other diagnosis	Clinical CTS	Nerve biopsy
Case No	Age (years)	Sex	Age at onset	Onset symptom	Charcot joint	CN	MNSI history	MNSI status	Cranial nerve	Muscle	Motor sign	Reflexes leg	Pinprick	Touch	Heat	Cold	Vibration	Other diagnosis	Clinical CTS	Nerve biopsy
1	13	M				N	1	0	N	N	N	+	++	++	++	++	++		N
2	16	F				N	0	0	N	N	N	+	++	++	++	++	++	Or	N
3	16	M				N	1	1	N	N	N	+	++	++	++	++	++		N
4	19	F				N	1	0	N	N	N	+	++	++	++	++	++		N
5	20	M				N	0	0	Pt	N	N	+	++	++	++	++	++		N
6	24	M				N	0	0	N	N	N	+	++	++	++	++	++		N
7	29	F				N			N	N		+	+	++	++	++	+
8	37	F				N	2	2	N	N	N	+	++	++	++	++	++	Or	Y
9	40	F				N	2	0	Pt	N	N	+	++	++	++	++	++		N
10	45	F				N	0	2	N	N	N	+	++	++	++	++	++		Y	Y
11	47	M				N	0	3	N	N	N	+	++	++	++	++	+	Or	Y
12	50	M				N	2	1	N	AQ	Th↓	++	++	++	++	++	+	Cp	Y
13	51	F	20	A	S?	N	3	4	N	N	N	+	++	++	++	++	+		N	Y
14	51	M	30	A	F	N	0	1	N	N	N	+	++	++	++	++	+		Y
15	54	F	20	A	K	N	4	0	Pt	N	N	+	++	++	++	++	++		N
16	55	M	20	A	K	N	2	1	Pt	N	N	+	++	++	++	++	0	Or	Y
17	60	F				N	4	2	N	N	N	+	++	++	++	++	0		N	Y
18	63	M				N	2	2	N	N	N	(+)	++	++	++	++	0		Y
19	63	F				N	3	3	N	N	N	+	++	++	++	++	+		Y
20	66	F		NP		NP	4	5	Pt	AH	N	+	++	++	++	++	0		Y
21	69	F				N	0	2	N	N	N	+	++	++	++	++	0		N	Y
22	72	F		NP		NP	5	2.5	Ti	N	Th↓		+	++	++	++	0		N
23	74	M	50	A	KA	NP	1	5	N	AH	Th↓	(+)	++	++	++	+	0	Or	Y	Y
24	82	M	70	A	K	NP	2	5	N	N	Th↓	–	++	++	++	++	0	B12
25	84	F	70	A	K	NP	0	1	N	AH	N	–	++	++	+	+	+	Or		Y
26	90	M	60	A	K	NP	1	3	Pu	AQ AH	N	(+)	++	++	+	+	0		Y
Young	34	Mean					1.00	1.00	Mean
							1.29	1.30	SD
Old	71	Mean					2.18	2.90	Mean
							1.66	1.75	SD
All	50	Mean					2.00	1.79	Mean
	22.7	SD					1.53	1.70	SD

We found no mutilating symptoms, autoamputations, painless fracture, multiple infections or mental retardation.
Charcot joint: A, ankle; F, foot; K, knee; S, spine.
Reflexes: –, absent; (+), reduced; +, normal; ++, high.
Sensation: 0, absent; +, reduced; ++, normal.
A, arthropathy; AH, atrophy hand; AQ, atrophy quadriceps; B12, B12 deficiency; CN, clinical neuropathy; Cp, cerebral palsy; CTS, carpal tunnel syndrome; MNSI, Michigan Neuropathy Screening Instrument; N, normal or no; NP, polyneuropathy; Or, ortostatism; Pt, ptosis; Pu, different pupil size; Th, toe–heel test; Ti, tinnitus; Y, yes.